Volume 135 · Issue 11 · 2022

先天性心脏病（CHD）是最常见的先天性畸形之一，在活产婴儿中的患病率约为1%。^[1,2]其中1/4~1/3为重大CHD，包括临界CHD（CCHD）和严重CHD，需要在1岁前进行手术或导管介入治疗。^[3]如果不治疗，严重的CHD可能会导致严重的结果，如心力衰竭、心源性休克、酸中毒和缺氧缺血性脑损伤，并且是婴儿死亡和儿童残疾的主要原因之一。^[4]四个托儿所CCHD漏诊率发达国家从13%到48%不等，^[4,5]但在中国，在出生后出现严重症状之前，is>71%。^[6]因此，CHD筛查有助于早期发现、诊断和治疗，有助于改善预后，减轻家庭和社会的医疗、经济和精神负担。^[5,7]

肝病是由异质性病因引起的肝损害的统称，在世界范围内造成沉重的健康负担。现代医学成像，如计算机断层扫描（CT）、磁共振成像（MRI）和超声检查，在肝病的诊断和治疗中起着重要作用。基于成像的深度学习（DL）是近十年来研究最活跃的技术之一。它通过分层结构实现高维特征提取，可用于各种临床场景，特别是计算机视觉中的卷积神经网络。

中国面临着沉重的肥胖大流行。中国疾病预防控制中心最近的数据表明，2018年估计有超过8.1%的中国成年人（8500万中国成年人）患有肥胖症，是2004年水平的三倍。^[1]

Non-smokers account for a large proportion of lung cancer patients, especially in Asia, but the attention paid to them is limited compared with smokers. In non-smokers, males display a risk for lung cancer incidence distinct from the females—even after excluding the influence of smoking; but the knowledge regarding the factors causing the difference is sparse. Based on a large multicenter prospective cancer screening cohort in China, we aimed to elucidate the interpretable sex differences caused by known factors and provide clues for primary and secondary prevention.

Risk factors including demographic characteristics, lifestyle factors, family history of cancer, and baseline comorbidity were obtained from 796,283 Chinese non-smoking participants by the baseline risk assessment completed in 2013 to 2018. Cox regression analysis was performed to assess the sex difference in the risk of lung cancer, and the hazard ratios (HRs) that were adjusted for different known factors were calculated and compared to determine the proportion of excess risk and to explain the existing risk factors.

With a median follow-up of 4.80 years, 3351 subjects who were diagnosed with lung cancer were selected in the analysis. The lung cancer risk of males was significantly higher than that of females; the HRs in all male non-smokers were 1.29 (95% confidence interval [CI]: 1.20-1.38) after adjusting for the age and 1.38 (95% CI: 1.28-1.50) after adjusting for all factors, which suggested that known factors could not explain the sex difference in the risk of lung cancer in non-smokers. Known factors were 7% (|1.29-1.38|/1.29) more harmful in women than in men. For adenocarcinoma, women showed excess risk higher than men, contrary to squamous cell carcinoma; after adjusting for all factors, 47% ([1.30-1.16]/[1.30-1]) and 4% ([7.02-6.75]/[7.02-1])) of the excess risk was explainable in adenocarcinoma and squamous cell carcinoma. The main causes of gender differences in lung cancer risk were lifestyle factors, baseline comorbidity, and family history.

Significant gender differences in the risk of lung cancer were discovered in China non-smokers. Existing risk factors did not explain the excess lung cancer risk of all non-smoking men, and the internal causes for the excess risk still need to be explored; most known risk factors were more harmful to non-smoking women; further exploring the causes of the sex difference would help to improve the prevention and screening programs and protect the non-smoking males from lung cancers.

Pancreatitis is a common disease of the digestive system. Acute pancreatitis is one of the most common reasons for gastrointestinal hospital admission, and chronic pancreatitis significantly reduces quality of life. However, national epidemiological data on pancreatitis in China are lacking. This study aimed to quantify the disease burden of pancreatitis in China from 1990 to 2019.

This study was based on the Global Burden of Disease Study 2019 dataset. Age-standardized rates of incidence (ASIR), prevalence (ASPR), mortality (ASMR), and disability-adjusted life years (DALYs) were used to describe the disease burden of pancreatitis, and estimated annual percentage change (EAPC) was used to indicate the average change in age-standardized rates. We also described the trend of pancreatitis-related mortality and DALYs, which are attributable to alcohol use by age and sex.

From 1990 to 2019, the ASIR, ASPR, ASMR, and age-standardized DALYs of pancreatitis in China decreased by 10.90, 1.50, 0.49, and 15.54 per 100,000, respectively, with EAPCs of -1.35 (95% uncertainty interval [UI]: -1.67, -1.02) and -0.37 (95% UI: -0.43, -0.31), -2.01 (95% UI: -2.07, -1.94) and -2.32 (95% UI: -2.37, -2.28), respectively. Recently, the numbers of incident and prevalent cases have risen, with estimates of 380,018 (95% UI: 308,669-462,767) and 493,765 (95% UI: 416,705-578,675), respectively, in 2019. Among men, the disease burden of pancreatitis was more severe than among women, and with variances in the distribution among different age groups. Age-standardized DALYs caused by alcohol-related pancreatitis have gradually worsened in the past decade, accounting for 34.09% of the total in 2019.

The disease burden of pancreatitis in China has declined in the past 30 years, but the exacerbation of population aging poses a challenge to prevention and control of pancreatitis. Alcohol use has gradually become an important factor in the disease burden of pancreatitis in recent years.

Pancreatic adenocarcinoma (PAAD) is an extremely lethal malignancy. Identification of the functional genes and genetic variants related to PAAD prognosis is important and challenging. Previously identified prognostic genes from several expression profile analyses were inconsistent. The regulatory genetic variants that affect PAAD prognosis were largely unknown.

Firstly, a meta-analysis was performed with seven published datasets to systematically explore the candidate prognostic genes for PAAD. Next, to identify the regulatory variants for those candidate genes, expression quantitative trait loci analysis was implemented with PAAD data resources from The Cancer Genome Atlas. Then, a two-stage association study in a total of 893 PAAD patients was conducted to interrogate the regulatory variants and find the prognostic locus. Finally, a series of biochemical experiments and phenotype assays were carried out to demonstrate the biological function of variation and genes in PAAD progression process.

A total of 128 genes were identified associated with the PAAD prognosis in the meta-analysis. Fourteen regulatory loci in 12 of the 128 genes were discovered, among which, only rs4887783, the functional variant in the promoter of Ring Finger and WD Repeat Domain 3 (RFWD3), presented significant association with PAAD prognosis in both stages of the population study. Dual-luciferase reporter and electrophoretic mobility shift assays demonstrated that rs4887783-G allele, which predicts the worse prognosis, enhanced the binding of transcript factor REST, thus elevating RFWD3 expression. Further phenotypic assays revealed that excess expression of RFWD3 promoted tumor cell migration without affecting their proliferation rate. RFWD3 was highly expressed in PAAD and might orchestrate the genes in the DNA repair process.

RFWD3 and its regulatory variant are novel genetic factors for PAAD prognosis.

It remains unclear about the association of muscle mass, strength, and quality with death in the general Chinese population of diverse economical and geographical backgrounds. The present study aimed to comprehensively examine such associations across different regions in China.

Based on the China Kadoorie Biobank study, the present study included 23,290 participants who were aged 38 to 88 years and had no prevalent cardiovascular diseases or cancer. Muscle mass and grip strength were measured using calibrated instruments. Arm muscle quality was defined as the ratio of grip strength to arm muscle mass. Low muscle mass, grip strength, and arm muscle quality were defined as the sex-specific lowest quintiles of muscle mass index, grip strength, and arm muscle quality, respectively. Cox proportional hazards models yielded hazard ratios (HRs) and 95% confidence intervals (CIs) for risks of all-cause mortality in relation to muscle mass, strength, and quality.

During a median follow-up of 3.98 years, 739 participants died. The HR (95% CI) of all-cause mortality risk was 1.28 (1.08-1.51) for low appendicular muscle mass index, 1.38 (1.16-1.62) for low total muscle mass index, 1.68 (1.41-2.00) for low grip strength, and 1.41 (1.20-1.66) for low arm muscle quality in models adjusted for sociodemographic characteristics, lifestyle factors, and medical histories.

Low muscle mass, grip strength, and arm muscle quality are all associated with short-term increased risks of mortality, indicating the importance of maintaining normal muscle mass, strength, and quality for general Chinese adults.

Urticaria is a common skin disease characterized by episodes of wheals, and it has a negative effect on patients’ quality of life. Large-scale population-based epidemiological studies of urticaria are scarce in China. The aim of this survey was to determine the prevalence, clinical forms, and risk factors of urticaria in the Chinese population.

This survey was conducted in 35 cities from 31 provinces, autonomous regions, and municipalities of China. Two to three communities in each city were selected in this investigation. Participants completed questionnaires and received dermatological examinations. We analyzed the prevalence, clinical forms, and risk factors of urticaria.

In total, 44,875 questionnaires were distributed and 41,041 valid questionnaires were collected (17,563 male and 23,478 female participants). The lifetime prevalence of urticaria was 7.30%, with 8.26% in female and 6.34% in male individuals (P < 0.05). The point prevalence of urticaria was 0.75%, with 0.79% in female and 0.71% in male individuals (P < 0.05). Concomitant angioedema was found in 6.16% of patients. Adults had a higher prevalence of urticaria than adolescents and children. Living in urban areas, exposure to pollutants, an anxious or depressed psychological status, a personal and family history of allergy, thyroid diseases, and Helicobacter pylori infection were associated with a higher prevalence of urticaria. Smoking was correlated with a reduced risk of urticaria.

This study demonstrated that the lifetime prevalence of urticaria was 7.30% and the point prevalence was 0.75% in the Chinese population; women had a higher prevalence of urticaria than men. Various factors were correlated with urticaria.

致编辑：人们越来越关注与HIV感染相关的肠道细菌生态失调，解决了肠道细菌在人类免疫缺陷病毒(HIV)感染人群中持续慢性炎症和严重肠道功能障碍中的关键作用。然而，对HIV感染引起的肠道真菌生态失调知之甚少。因此，我们开展了一项病例对照研究，旨在探索HIV感染中细菌和真菌的肠道生态失调，这可能会揭示HIV感染相关的细菌和真菌肠道生态失调的更全面特征，这些细菌和真菌可能在HIV感染中观察到的慢性全身免疫激活中发挥作用。

致编辑：大疱性类天疱疮（BP）的实验室诊断方法包括直接免疫荧光（DIF）显微镜检查、BP180 NC16A酶联免疫吸附试验（ELISA）和使用盐裂皮肤的间接免疫荧光（ssIIF）。免疫荧光（IF）研究是BP实验室检查的重要组成部分。DIF被视为BP诊断的金标准；但无特异性，也可见于其他获得性自身免疫性表皮下水疱性皮肤病。发现ssIIF对BP诊断具有100%的特异性，在一些指南中，建议对每个临床疑似BP的患者进行ssIIF。^[1]迄今为止，ssIIF是否可以作为BP的常规诊断方法仍未明确。BP180 NC16A ELISA是一种实用可靠的BP诊断试验；然而，最近在广泛的皮肤病中报道了BP180 NCA6A ELISA的假阳性结果，这可能导致其在BP诊断中的不确定性。因此，我们进行了一项单中心回顾性研究，以比较2014年1月至2019年1月期间中国医学科学院皮肤病医院这些测试对BP的诊断价值。经当地医学伦理委员会批准（编号2017-KY-022），并在采集血清前获得患者同意。

致编辑：寻常痤疮是一种累及皮脂腺的慢性炎症性皮肤病。其发病率约为9.4%，常发生于青少年。^[1]疾病本身和治疗后留下的疤痕会造成青少年心理压力，严重影响患者的生活质量。^[2]目前，护肤品或单独使用，或与医疗药物联合使用，已成为治疗痤疮的重要手段。这项单中心、单盲（临床医生盲）、男性平行、随机研究（注册号：ChiCTR2100051398）评估了含有辛基水杨酸、水杨酸、亚油酸、烟酰胺和吡罗克酮乙醇胺（Duo+，理肤泉，巴黎，法国）的乳膏单独和与过氧化苯甲酰（BPO，Galderma，巴黎，法国）联合治疗轻度至中度痤疮的疗效和安全性。该研究获得了中国上海皮肤病医院伦理委员会的批准（编号：2020-13 ke）。所有参与者都提供了书面知情同意书。

致编辑：胃癌是世界上最常诊断的癌症之一。对于病理肿瘤淋巴结转移分期为II期或III期的患者，通常需要术后辅助化疗，通过控制根治性切除后的残留肿瘤细胞来降低复发风险。^[1]尽管紫杉烷最近在胃癌中显示出有希望的活性，^[2,3]无应答者可能会产生费用并经历不良反应，而没有临床益处，努力为个体选择有效的方案非常重要。的应用体外已经在几项研究中研究了化学敏感性测定作为个性化癌症治疗中的预测标志物。^[4]然而，胃癌对紫杉烷类化疗反应的异质性及其相关性体外化疗敏感性和临床结局仍不清楚。

致编辑：冠状病毒2019（COVID-19）治疗（恢复期）的随机评估^[1]临床试验表明，糖皮质激素可以影响重症新冠肺炎患者的预后，但对轻度疾病没有益处。其他临床试验，如地塞米松治疗新冠肺炎相关急性呼吸窘迫综合征（ARDS）（CoDEX）和地塞米松治疗ARDS的疗效研究（DEXA-ARDS），也证明了糖皮质激素的有效性。在这些试验的基础上，糖皮质激素已被推荐用于新冠肺炎的治疗，尽管其作用机制尚不清楚。弥漫性肺泡损伤（DAD）并不是新冠肺炎引起ARDS的唯一病理变化。部分病例以机化性肺炎（OP）或急性纤维蛋白性和机化性肺炎（AFOP）为主要表现。^[2]以AFOP为主要病理特征的急性型AFOP常导致呼吸衰竭并迅速进展至死亡，而亚急性型AFOP预后良好。新冠肺炎相关ARDS有两种类型：1型为非典型ARDS，弹性低（L型），顺应性增高，通气/灌注比失衡；而2型为经典ARDS，弹性高（H型），顺应性降低，右向左分流增加，主要与疾病进展有关（但不是绝对的）。一些H型ARDS患者出现AFOP。糖皮质激素对典型的DAD影响不大，但对继发OP和感染（包括病毒感染）引起的AFOP亚急性模式有明确的治疗作用。根据目前的文献，糖皮质激素治疗新冠肺炎的有效性可能归因于OP或AFOP的病理变化。一项对新冠肺炎危重患者临床试验的荟萃分析显示，与常规护理或安慰剂相比，全身性皮质类固醇的给药与较低的28天全因死亡率相关。^[3]因此，确定适合糖皮质激素治疗的患者非常重要。提示糖皮质激素治疗有效的计算机断层扫描表现有：（1）以双侧、外周、下肺分布为主的实变（符合OP特点）；^[4]（2）支气管周围实变可伴有下叶胸膜下区斑片状磨玻璃样影（符合OP特点）；^[4]以及（3）局灶性或弥漫性肺实质异常，与OP相似（符合亚急性AFOP的特点）。^[5]确定适合糖皮质激素治疗的患者可能会提高重症新冠肺炎的治疗准确性和预后，并减少糖皮质激素的不良反应。在需要机械通气的新冠肺炎患者中，足剂量甲基强的松龙（≥1 mg kg^-1·d^-1，≥3d）与地塞米松（≥6mg/d，≥7d）相比，可导致死亡率进一步降低。^[6]